Diagnoses of uncertain significance: kidney genetics in the 21st century

被引：0

作者：

Daniel P. Gale

Andrew Mallett

Chirag Patel

Tam P. Sneddon

Heidi L. Rehm

Matthew G. Sampson

Detlef Bockenhauer

机构：

[1] University College London,Department of Renal Medicine

[2] KidGen Collaborative,Department of Renal Medicine

[3] Australian Genomics Health Alliance,Institute for Molecular Bioscience and Faculty of Medicine

[4] Royal Brisbane and Women’s Hospital,Genetic Health Queensland

[5] The University of Queensland,Department of Pathology and Laboratory Medicine

[6] Royal Brisbane and Women’s Hospital,Center for Genomic Medicine

[7] University of North Carolina,Medical and Population Genetics

[8] Massachusetts General Hospital,Division of Nephrology

[9] Broad Institute of MIT and Harvard,Renal Unit

[10] Harvard Medical School,undefined

[11] Boston Children’s Hospital,undefined

[12] Great Ormond Street Hospital for Children,undefined

[13] NHS Foundation Trust,undefined

来源：

Nature Reviews Nephrology | 2020年 / 16卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However, insufficient or contradictory evidence exists for numerous variants that were previously reported to be pathogenic, calling into question some proposed gene–disease associations. Rigorous re-appraisal of evidence is needed to ensure diagnostic accuracy.

引用

页码：616 / 618

页数：2

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